Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The protein encoded by the complement factor D gene (CFD) is a protease that activates the alternative complement pathway. Mutations cause the autosomal recessive complement factor D deficiency which is clinically characterized by hight susceptibility to neisseria and meningococcal infections.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
None (2001) Complement. First of two parts. 
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| 2. |
Weiss SJ et al. (1998) Complement factor D deficiency in an infant first seen with pneumococcal neonatal sepsis.
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| 3. |
Mathieson PW et al. (1997) Lipodystrophy in MCGN type II: the clue to links between the adipocyte and the complement system.
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| 4. |
Volanakis JE et al. (1977) Human factor D of the alternative complement pathway: purification and characterization.
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| 5. |
Martin A et al. (1976) Haemolytic diffusion plate assays for factors B and D of the alternative pathway of complement activation.
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| 6. |
Rosen BS et al. (1989) Adipsin and complement factor D activity: an immune-related defect in obesity.
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| 7. |
Stanton CM et al. (2011) Complement factor D in age-related macular degeneration.
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| 8. |
Forneris F et al. (2010) Structures of C3b in complex with factors B and D give insight into complement convertase formation.
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| 9. |
Abrera-Abeleda MA et al. (2007) Mesangial immune complex glomerulonephritis due to complement factor D deficiency.
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| 10. |
Sprong T et al. (2006) Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections.
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| 11. |
White RT et al. (1992) Human adipsin is identical to complement factor D and is expressed at high levels in adipose tissue.
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| 12. |
Xu Y et al. (2001) Complement activation in factor D-deficient mice.
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| 13. |
Biesma DH et al. (2001) A family with complement factor D deficiency.
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| 14. |
Hobart MJ et al. (1976) Allotypes of complement components in man.
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| 15. |
OMIM.ORG article Omim 134350
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| 16. |
Orphanet article Orphanet ID 221187
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| 17. |
NCBI article NCBI 1675
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